Targeted mutation screening is a useful diagnostic test utilized to detect the mutated gene or genes causing a specific, or previously established genetic disease in the family.
The test can be performed for a broad range of clinical indications:
If a person suffers from a genetic condition and the above statements do not apply, then Whole Exome Sequencing may be an alternative diagnostic option.
Targeted mutation screening offers the potential for more informed therapeutic strategies, prevention of disease onset, and the opportunity to minimize the transmission of genetic conditions to future generations through the use of Assisted Reproductive Technology (ART) with PGT-M.
